ClinVar Miner

List of variants studied for autosomal recessive syndromic cerebellar ataxia by Genome-Nilou Lab

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002913.5(RFC1):c.4-26G>A rs4975007 0.97561
NM_015378.4(VPS13D):c.8658A>C (p.Pro2886=) rs28551666 0.78408
NM_002913.5(RFC1):c.2541A>G (p.Pro847=) rs2066786 0.55849
NM_002913.5(RFC1):c.2808+36C>G rs2066788 0.52121
NM_002913.5(RFC1):c.331+25G>T rs2306596 0.41060
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=) rs17188183 0.09972
NM_015378.4(VPS13D):c.5334T>A (p.Ser1778Arg) rs144311414 0.00133

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